Novel sequence variants of the α-galactosidase A gene in patients with Fabry disease

Melinda Erdos, Krisztina Németh, Beáta Tóth, Tamás Constantin, Éva Rákóczi, Andrea Ponyi, Angéla Dajnoki, János Grubits, István Pintér, Ferencz Garzuly, Katalin Hahn, Krisztina Bencsik, László Vécsei, György Fekete, László Maródi

Research output: Article

7 Citations (Scopus)

Abstract

We carried out molecular studies of 15 unrelated Hungarian families diagnosed with Fabry disease (FD). Genetic analysis of the α-galactosidase A gene was performed in 22 hemizygous males and 34 females. One of the female patients with severe disease phenotype showed homozygosity for the recurrent c.644A > G mutation due to parental consanguinity. The c.644A > G mutation that has previously been found mostly in patients with the cardiac variant of FD, was associated with renal but not cardiac involvement in this female and in two other family members. In nine families, eight novel sequence variants such as small deletions (c.363delT, c.477delT, c.746delAC) and single nucleotide changes (c.107T > C, c.493G > C, c.796G > T, c.866T > G, c.871G > A) were found in addition to six previously described private mutations. This report contributes to the identification of novel disease-causing mutations in FD, and increases our knowledge on demographics and molecular characteristics of this rare lysosomal storage disorder. This is the first comprehensive overview of molecular genetic features of Hungarian patients with FD.

Original languageEnglish
Pages (from-to)224-228
Number of pages5
JournalMolecular Genetics and Metabolism
Volume95
Issue number4
DOIs
Publication statusPublished - dec. 1 2008

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology

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